{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA322961",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 110,
          "referenceAllele": "G",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NP_000384.2:p.Gly110Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA322960",
          "hgvs": "NM_000393.5:c.329G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146936"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209573[alleleid]",
        "alleleId": 209573,
        "preferredName": "NM_000393.5(COL5A2):c.329G>A (p.Gly110Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213137",
        "RCV": [
          "RCV000198454"
        ],
        "variationId": 213137
      }
    ]
  },
  "type": "amino-acid"
}